Communicating hydrocephalus in a patient with Gaucher's disease type 3

Pediatric Neurology

Volumn 22, Issue 3, 2000, Pages 234-236

  Shiihara, Takashi ^a   Oka, Akira ^a   Suzaki, Ichirou ^a   Ida, Hiroyuki ^b   Takeshita, Kenzo ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN SCINTISCANNING; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; COMMUNICATING HYDROCEPHALUS; GAUCHER DISEASE; GENE MUTATION; HUMAN; HYDROCEPHALUS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL;

BETA-GLUCOSIDASE; CHILD, PRESCHOOL; GAUCHER DISEASE; GENOTYPE; HUMANS; HYDROCEPHALUS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; TOMOGRAPHY, X-RAY COMPUTED; TREATMENT OUTCOME; VENTRICULOPERITONEAL SHUNT;

EID: 0034015095     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(99)00140-X     Document Type: Article

References (12)

1. Beutler E. Gaucher disease. Adv Genet. 32:1995;17-49.
2. Beutler E., Grabowski G.A. Gaucher disease. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 7th ed. 1995;2641-2670 McGraw-Hill, New York.
3. Ida H., Iwasawa K., Kawame H., Rennert O.M., Maekawa K., Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients Absence of the common Jewish 84GG and 1226G mutations . Hum Genet. 95:1995;717-720.
4. LeMay M., Hochberg F. Ventricular differences between hydrostatic hydrocephalus and hydrocephalus ex vacuo by computed tomography. Neuroradiology. 17:1979;191-195.
5. Heinz E.R., Ward A., Drayer B.P., DuBois P.J. Distinction between obstructive and atrophic dilatation of ventricles in children. J Comput Assist Tomogr. 4:1980;320-325.
6. Barkovich A.J. Hydrocephalus. Barkovich A.J. Pediatric neuroimaging. 2nd ed. 1995;439-475 Raven Press, New York.
7. Drayer B.P., Rosenbaum A.E. Pediatric metrizamide CT cisterography Cerebrospinal fluid circulation and hydrocephalus . Neurology. 28:1978;71-77.
8. Schiffmann R., Heyes M.P., Aerts J.M., et al. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease. Ann Neurol. 42:1997;613-621.
9. Uyama E., Takahashi K., Owada M., et al. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings A new syndrome associated with glucocerebrosidase deficiency and a mosaic population of storage cells . Acta Neurol Scand. 86:1992;407-420.
10. Erduran E., Mocan H., Gedik Y., Kamaci R., Okten A., Deger O. Hydrocephalus, corneal opacities, deafness, left ventricular hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency. Genet Couns. 6:1995;211-215.
11. Abrahamov A., Elstein D., Gross Tsur V., et al. Gaucher's disease variant characterized by progressive calcification of heart valves and unique genotype. Lancet. 346:1995;1000-1003.
12. Uyama E., Uchino M., Ida H., Eto Y., Owada M. D409H/D409H genotype in Gaucher-like disease. J Med Genet. 34:1997;175.